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Article

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

Neurogenetics - 1 Mar 1998

Vorgerd M, Burwinkel B, Reichmann H, Malin J P, Kilimann M W

Abstract excerpt

Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Clinical as well as biochemical and allelic heterogeneity have been described in GSDII. We identified mutations within the GAA gene in seven unrelated German patients, six with adult- and one with juvenile-onset GSDII. Beside previously described mutations [IVS1 (-13T -->...

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Source

Identifiers

PMID: 10737124
DOI: 10.1007/s100480050030

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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